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    MLKL mixed lineage kinase domain-like [ Homo sapiens ]

    Gene ID: 197259, updated on 11-May-2012
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    Summary

    Official Symbol
    MLKLprovided by HGNC
    Official Full Name
    mixed lineage kinase domain-likeprovided by HGNC
    Primary source
    HGNC:26617
    See related
    Ensembl:ENSG00000168404; HPRD:08752
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLJ34389
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    Genomic context

    Location :
    16q23.1
    Sequence :
    Chromosome: 16; NC_000016.9 (74705753..74734789, complement)
    See MLKL in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene ring finger and WD repeat domain 3 Neighboring gene thymopoietin pseudogene Neighboring gene fatty acid 2-hydroxylase Neighboring gene WD repeat domain 59

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mixed lineage kinase domain-like protein mediates necrosis signaling downstream of RIP3 kinase. Sun L, et al. Cell, 2012 Jan 20. PMID 22265413.
    2. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. Dastani Z, et al. Eur J Hum Genet, 2010 Mar. PMID 19844255.
    3. Large-scale mapping of human protein-protein interactions by mass spectrometry. Ewing RM, et al. Mol Syst Biol, 2007. PMID 17353931.
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039.

    See all (7) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Findings implicate MLKL as a key mediator of necrosis signaling downstream of the kinase RIP3.
      Title: Mixed lineage kinase domain-like protein mediates necrosis signaling downstream of RIP3 kinase.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:128244 BioGRID:111323 PITPNA    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferase activity, transferring phosphorus-containing groups IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    mixed lineage kinase domain-like protein
    Names
    mixed lineage kinase domain-like protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001142497.1 → NP_001135969.1  mixed lineage kinase domain-like protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK091708, BC028141, BQ575071
      Consensus CDS
      CCDS45528.1
      UniProtKB/Swiss-Prot
      Q8NB16
      Related
      ENSP00000303118, ENST00000306247
      Conserved Domains (1) summary
      cl09925
      Location:208 – 258
      Blast Score: 100
      PKc_like; Protein Kinases, catalytic domain

    2. NM_152649.2 → NP_689862.1  mixed lineage kinase domain-like protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK091708, BC028141, BQ575071
      Consensus CDS
      CCDS32487.1
      UniProtKB/Swiss-Prot
      Q8NB16
      Related
      ENSP00000308351, ENST00000308807
      Conserved Domains (2) summary
      PHA02988
      Location:177 – 469
      Blast Score: 568
      PHA02988; hypothetical protein; Provisional
      cl09925
      Location:218 – 466
      Blast Score: 361
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 Primary Assembly

      Range
      74705753..74734789, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      60455333..60484688, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004685.1 (14950..15436) None
    genomic AC109599.4 None
    genomic CH471114.2 EAW95679.1
    genomic CQ859712.1 CAH25906.1
    mRNA AK091708.1 BAC03728.1
    mRNA AK093013.1 None
    mRNA AK122998.1 None
    mRNA BC028141.1 AAH28141.1
    mRNA BQ575071.1 None
    mRNA AL833362.1 CAI46144.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JPC5 GenPept UniProtKB/TrEMBL:Q5JPC5
    Q8NB16.1 GenPept UniProtKB/Swiss-Prot:Q8NB16
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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